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Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype
Author(s) -
Frühmesser Anne,
Haberlandt Edda,
Judmaier Werner,
Schinzel Albert,
Utermann Barbara,
Erdel Martin,
Fauth Christine,
Utermann Gerd,
Zschocke Johannes,
Kotzot Dieter
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35450
Subject(s) - gene duplication , haploinsufficiency , hypoplasia , genetics , karyotype , biology , corpus callosum , chromosome , phenotype , gene , anatomy
Exact breakpoint determination by DNA‐array has dramatically improved the analysis of genotype–phenotype correlations in chromosome aberrations. It allows a more exact definition of the most relevant genes and particularly their isolated or combined impact on the phenotype in an unbalanced state. Here, we report on a 21‐year‐old female with severe growth retardation, severe intellectual disability, hypoplasia of the corpus callosum, unilateral sacral hypoplasia, tethered cord, various minor facial dysmorphisms, and a telomeric deletion of about 4.4 Mb in 7q36.2‐>qter combined with a telomeric duplication of about 8 Mb in 17pter‐>p13.1. Fine mapping was achieved with the Illumina® Infinium HumanOmni1‐Quad v1.0 BeadChip. Most of the major clinical features correspond to the well‐known effects of haploinsufficiency of the MNX1 and SHH genes. In addition, review of the literature suggests an association of the 17p duplication with specific facial dysmorphic features and skeletal anomalies, but also an aggravating effect of the duplication‐deletion for severe growth retardation as well as sacral and corpus callosum hypoplasia by one or more genes located on the proximal half of the segmental 17p duplication could be elaborated by comparison with other patients from the literature carrying either the deletion or the duplication found in our patient. © 2012 Wiley Periodicals, Inc.